A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6249n100



Internal ID19016617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6962401..8039172hg38UCSC Ensembl
chr7:7002032..8078802hg19UCSC Ensembl
chr7:6968557..8045327hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381076772
hg191076771
hg181076771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026758, nsv1028406
Samples
Known GenesC1GALT1, COL28A1, GLCCI1, LOC100131257, LOC101927354, MIOS, RPA3, RPA3-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6249n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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